Canonical Allele Identifier: CA574225835

Gene: PGAM2 DBNL

Linked Data

• dbSNP Id: rs1307368394
• gnomAD v2: 7-44102357-C-A
• gnomAD v4: 7-44062758-C-A
• MyVariant Identifiers: chr7:g.44102357C>A (hg19) ; chr7:g.44062758C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44062758C>A , CM000669.2:g.44062758C>A	GRCh38
NC_000007.13:g.44102357C>A , CM000669.1:g.44102357C>A	GRCh37
NC_000007.12:g.44068882C>A	NCBI36
NG_013016.1:g.7830G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297283.4:c.*6G>T (PGAM2) MANE Select	ENSP00000297283.3:n.*6G>T
ENST00000448521.6:c.*1842C>A (DBNL) MANE Select	ENSP00000411701.1:n.*1842C>A
ENST00000297283.3:c.*6G>T (PGAM2)	ENSP00000297283.3:n.*6G>T
ENST00000432854.5:c.2920C>A (DBNL)
NM_000290.3:c.*6G>T (PGAM2)	NP_000281.2:n.*6G>T
NM_000290.4:c.*6G>T (PGAM2) MANE Select	NP_000281.2:n.*6G>T
NM_001014436.3:c.*1842C>A (DBNL) MANE Select	NP_001014436.1:n.*1842C>A
NM_001122956.2:c.*1842C>A (DBNL)	NP_001116428.1:n.*1842C>A
NM_001284313.2:c.*1842C>A (DBNL)	NP_001271242.1:n.*1842C>A
NM_001362723.2:c.*1842C>A (DBNL)	NP_001349652.1:n.*1842C>A
NM_014063.7:c.*1842C>A (DBNL)	NP_054782.2:n.*1842C>A
NM_001284315.2:c.*1842C>A (DBNL)	NP_001271244.1:n.*1842C>A